In celebration of a century with insulin – Update of insulin gene mutations in diabetes

Autor: Julie Støy, Elisa De Franco, Honggang Ye, Soo-Young Park, Graeme I. Bell, Andrew T. Hattersley

Publikováno v: Molecular Metabolism, Vol 52, Iss , Pp 101280- (2021)

Background: While insulin has been central to the pathophysiology and treatment of patients with diabetes for the last 100 years, it has only been since 2007 that genetic variation in the INS gene has been recognised as a major cause of monogenic dia

Externí odkaz: https://doaj.org/article/7b6472ca2feb41e7aae6548de0286d87

Calpain-10 is a component of the obesity-related quantitative trait locus Adip1

Autor: James M. Cheverud, Gloria L. Fawcett, Joseph P. Jarvis, Elizabeth A. Norgard, Mihaela Pavlicev, L. Susan Pletscher, Kenneth S. Polonsky, Honggang Ye, Graeme I. Bell, Clay F. Semenkovich

Publikováno v: Journal of Lipid Research, Vol 51, Iss 5, Pp 907-913 (2010)

We previously mapped Adip1, an obesity quantitative trait locus (QTL), to the central portion of murine chromosome 1 containing the calpain-10 (Capn10) gene. Human studies have associated calpain-10 (CAPN10) variants with type 2 diabetes and various

Externí odkaz: https://doaj.org/article/c79151826d384ca698b1bb5170264cac

Identification and functional characterization of G6PC2 coding variants influencing glycemic traits define an effector transcript at the G6PC2-ABCB11 locus.

Autor: Anubha Mahajan, Xueling Sim, Hui Jin Ng, Alisa Manning, Manuel A Rivas, Heather M Highland, Adam E Locke, Niels Grarup, Hae Kyung Im, Pablo Cingolani, Jason Flannick, Pierre Fontanillas, Christian Fuchsberger, Kyle J Gaulton, Tanya M Teslovich, N William Rayner, Neil R Robertson, Nicola L Beer, Jana K Rundle, Jette Bork-Jensen, Claes Ladenvall, Christine Blancher, David Buck, Gemma Buck, Noël P Burtt, Stacey Gabriel, Anette P Gjesing, Christopher J Groves, Mette Hollensted, Jeroen R Huyghe, Anne U Jackson, Goo Jun, Johanne Marie Justesen, Massimo Mangino, Jacquelyn Murphy, Matt Neville, Robert Onofrio, Kerrin S Small, Heather M Stringham, Ann-Christine Syvänen, Joseph Trakalo, Goncalo Abecasis, Graeme I Bell, John Blangero, Nancy J Cox, Ravindranath Duggirala, Craig L Hanis, Mark Seielstad, James G Wilson, Cramer Christensen, Ivan Brandslund, Rainer Rauramaa, Gabriela L Surdulescu, Alex S F Doney, Lars Lannfelt, Allan Linneberg, Bo Isomaa, Tiinamaija Tuomi, Marit E Jørgensen, Torben Jørgensen, Johanna Kuusisto, Matti Uusitupa, Veikko Salomaa, Timothy D Spector, Andrew D Morris, Colin N A Palmer, Francis S Collins, Karen L Mohlke, Richard N Bergman, Erik Ingelsson, Lars Lind, Jaakko Tuomilehto, Torben Hansen, Richard M Watanabe, Inga Prokopenko, Josee Dupuis, Fredrik Karpe, Leif Groop, Markku Laakso, Oluf Pedersen, Jose C Florez, Andrew P Morris, David Altshuler, James B Meigs, Michael Boehnke, Mark I McCarthy, Cecilia M Lindgren, Anna L Gloyn, T2D-GENES consortium and GoT2D consortium

Publikováno v: PLoS Genetics, Vol 11, Iss 1, p e1004876 (2015)

Genome wide association studies (GWAS) for fasting glucose (FG) and insulin (FI) have identified common variant signals which explain 4.8% and 1.2% of trait variance, respectively. It is hypothesized that low-frequency and rare variants could contrib

Externí odkaz: https://doaj.org/article/cec1ab88480748b08bff91f2f1d31386

Functionally oriented analysis of cardiometabolic traits in a trans-ethnic sample

Autor: Graeme I. Bell, Heather M. Highland, Jianzhong Ma, Harshavardhan Doddapaneni, Esteban J. Parra, Alvaro N. Barbeira, Richard A. Gibbs, Miguel Cruz, Mandar Karhade, Eric Boerwinkle, Adan Valladares-Salgado, Paul S. de Vries, Donna M. Munzy, Jennifer E. Below, Dan E. Arking, Hao Hu, Megan L. Grove, Eric R. Gamazon, Hung-Hsin Chen, Alanna C. Morrison, Chad D. Huff, Hae Kyung Im, David Aguilar, Craig L. Hanis, Lauren E. Petty

Publikováno v: Human Molecular Genetics

Interpretation of genetic association results is difficult because signals often lack biological context. To generate hypotheses of the functional genetic etiology of complex cardiometabolic traits, we estimated the genetically determined component o

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::523f3816bde55d87d6033a8dd4f71dbf
https://doi.org/10.1093/hmg/ddy435

An in vivo cis-regulatory screen at the type 2 diabetes associated TCF7L2 locus identifies multiple tissue-specific enhancers.

Autor: Daniel Savic, Graeme I Bell, Marcelo A Nobrega

Publikováno v: PLoS ONE, Vol 7, Iss 5, p e36501 (2012)

Genome-wide association studies (GWAS) have repeatedly shown an association between non-coding variants in the TCF7L2 locus and risk for type 2 diabetes (T2D), implicating a role for cis-regulatory variation within this locus in disease etiology. Sup

Externí odkaz: https://doaj.org/article/b1c777cffab34af896af8128d284aca4